RESUMEN
Hamartomas, a focal excess of normal tissue usually presenting as isolated masses, are rarely found in the head and neck region. The purpose of this report is to discuss a rare case of an intra-oral angioleiomyomatous hamartoma in a 14-year-old male who presented with a congenital nodule over the anterior palatal mucosa. The confirmatory diagnosis was done based on histopathology and immunohistochemistry using various markers. A brief review of the literature and clinical differential diagnoses are discussed, along with the clinical significance of hamartomas associated with syndromes. Hence, the identification of such hamartomas may lead to early diagnosis of associated syndromes in pediatric patients.
Asunto(s)
Hamartoma , Humanos , Masculino , Adolescente , Hamartoma/patología , Diagnóstico Diferencial , Angiomioma/patología , Angiomioma/cirugía , Enfermedades de la Boca/patología , Enfermedades de la Boca/diagnósticoRESUMEN
We report the case of ileo-ileal intussusception secondary to a Peutz-Jeghers syndrome (PJS) hamartomatous polyp in a male infant. The patient presented with non-bilious vomiting and a single episode of passing blood in his stool. An upper gastrointestinal contrast study showed proximal bowel obstruction. At laparotomy, ileo-ileal intussusception was identified with a papillary mass acting as a lead point. The mass was resected, and a primary anastomosis was performed. The patient recovered well and was discharged on postoperative day 5. Histological assessment diagnosed a PJS hamartoma. The patient was well at 1 month follow-up. This case report describes a rare cause of intussusception in an infant that should be considered in the differential diagnosis. The diagnosis of PJS in infancy is uncommon and requires long-term follow-up.
Asunto(s)
Hamartoma , Enfermedades del Íleon , Intususcepción , Síndrome de Peutz-Jeghers , Humanos , Intususcepción/etiología , Intususcepción/cirugía , Intususcepción/diagnóstico , Síndrome de Peutz-Jeghers/complicaciones , Síndrome de Peutz-Jeghers/cirugía , Síndrome de Peutz-Jeghers/diagnóstico , Masculino , Lactante , Enfermedades del Íleon/cirugía , Enfermedades del Íleon/etiología , Enfermedades del Íleon/diagnóstico , Hamartoma/cirugía , Hamartoma/complicaciones , Hamartoma/diagnóstico , Diagnóstico Diferencial , Pólipos Intestinales/complicaciones , Pólipos Intestinales/cirugíaRESUMEN
Basaloid follicular hamartoma (BFH) is rare benign follicular malformation that is often clinically misdiagnosed. Patients with BFH demonstrate a variety of clinical manifestations and associated abnormalities. BFH may be a familial, congenital, or acquired condition with localized or generalized distribution. Several clinical variants of generalized BFH are known, and they can be associated with a diverse spectrum of abnormalities. Herein, we report two cases of solitary BFH in pediatric patients, both documented dermoscopically.
Asunto(s)
Hamartoma , Niño , Humanos , Dermoscopía , Folículo Piloso/patología , Folículo Piloso/anomalías , Hamartoma/diagnóstico , Hamartoma/patologíaRESUMEN
BACKGROUND: Transthoracic needle biopsy of lung lesions is a well-established procedure for the diagnosis of lung lesions. The literature focuses on the diagnosis of malignant lesions with an often reported accuracy rate of more than 90%. Experience showed that biopsy can identify sometimes incidentally, also benign lesions. There are many reasons why a biopsy is performed for a "benign lesion." First of all, it may be an unexpected diagnosis, as some benign pathologies may have misleading presentations, that are very similar to lung cancer, otherwise the reason is only to make a diagnosis of exclusion, which leads to the benign pathology already being considered in the differential diagnosis. METHODS: This study was designed as a retrospective single-center study. We selected from our database all the lung biopsies performed under CT guidance, from 2015 to 2019 and retrospectively analysed the histological data. We selected only benign lesions describing the imaging feature and differential diagnosis with lung malignancy. RESULTS: In our patient population, among the 969 of them that underwent biopsy, we identified 93 benign lesions (10%). Hamartomas, granulomas, slow-resolving pneumonia and cryptogenic organizing pneumonia are the pathologies that most frequently can misinterpratedas lung cancer. CONCLUSIONS: In this brief report we want to show the percentage and type of benign lesions that are found in our lung trans-thoracic biopsy population. Among these, we identified the three most frequent benign lesions that most frequently enter the differential diagnosis with lung malignant lesions describing the classic and atypical imaging findings.
Asunto(s)
Hamartoma , Enfermedades Pulmonares , Neoplasias Pulmonares , Humanos , Estudios Retrospectivos , Diagnóstico Diferencial , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/diagnóstico por imagen , Enfermedades Pulmonares/patología , Enfermedades Pulmonares/diagnóstico , Hamartoma/patología , Hamartoma/diagnóstico , Hamartoma/diagnóstico por imagen , Femenino , Masculino , Persona de Mediana Edad , Tomografía Computarizada por Rayos X , Anciano , Granuloma/patología , Granuloma/diagnóstico , Pulmón/patología , Pulmón/diagnóstico por imagen , Neumonía en Organización Criptogénica/patología , Neumonía en Organización Criptogénica/diagnóstico , Neumonía en Organización Criptogénica/diagnóstico por imagen , Biopsia Guiada por Imagen/métodos , AdultoRESUMEN
ABSTRACT: Mammary hamartoma are rare neoplasms of the breast. Myoid mammary hamartoma are a subtype comprising of prominent smooth muscle component along with normal breast tissue components including fibrous, adipose, and glandular tissue. We report the case of a 38-year-old lady who presented with a large 21 × 15 cm, firm, mobile lump in right breast, clinically mimicking as phyllodes tumor. The lesion was reported as BIRADS 4a on mammography. Fine needle aspiration cytology suggested benign breast disease. Wide local excision was performed. The excised lump was solid, gray-white with fatty yellowish areas. Histological features were of myoid mammary hamartoma. To the best of our knowledge, this is the largest myoid hamartoma reported till date. Fine needle aspiration, needle biopsy, and immunohistochemistry are of limited value as diagnostic modalities in these lesions. Complete surgical excision, proper identification, and follow-up is essential, as these lesions, more commonly those which are incompletely excised, can recur.
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Neoplasias de la Mama , Hamartoma , Humanos , Femenino , Hamartoma/patología , Hamartoma/cirugía , Hamartoma/diagnóstico , Adulto , Neoplasias de la Mama/patología , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/cirugía , Mamografía , Diagnóstico Diferencial , Biopsia con Aguja Fina , Enfermedades de la Mama/patología , Enfermedades de la Mama/diagnóstico , Enfermedades de la Mama/cirugíaAsunto(s)
Glándulas Duodenales , Enfermedades Duodenales , Hamartoma , Humanos , Hamartoma/cirugía , Hamartoma/patología , Glándulas Duodenales/patología , Glándulas Duodenales/cirugía , Glándulas Duodenales/diagnóstico por imagen , Enfermedades Duodenales/cirugía , Enfermedades Duodenales/diagnóstico por imagen , Masculino , Femenino , Duodenoscopía/métodos , Persona de Mediana EdadRESUMEN
BACKGROUND: To describe a rare seizure semiology originating from a hypothalamic hamartoma in a child, along with unusual ictal onset and connectivity pattern, and provide a review of the pathophysiology of epilepsy associated with hypothalamic hamartoma and management. METHODS: A detailed retrospective chart review and literature search were performed using Pubmed and Embase. RESULTS: We present a case of a three-year-old male who presented with dyscognitive seizures with onset at age 22 months. Stereoelectroencephalography exploration confirmed the onset in hypothalamic hamartoma with rapid propagation to the temporal-parietal-occipital association cortex and precuneus. The patient's epilepsy was cured with laser ablation of the hamartoma. CONCLUSION: Published literature mostly describes a more anterior frontal or temporal epileptic network with primarily gelastic seizures being the hallmark type of seizures associated with hypothalamic hamartoma. We highlight a rare posterior cortex network with an atypical presentation of focal nonmotor seizures with impaired awareness in the setting of a hypothalamic hamartoma. Stereotactic laser ablation of the hamartoma rendered seizure freedom. Early diagnosis and appropriate treatment can lead to seizure freedom.
Asunto(s)
Hamartoma , Enfermedades Hipotalámicas , Convulsiones , Humanos , Hamartoma/complicaciones , Hamartoma/cirugía , Hamartoma/fisiopatología , Masculino , Enfermedades Hipotalámicas/complicaciones , Enfermedades Hipotalámicas/cirugía , Enfermedades Hipotalámicas/fisiopatología , Enfermedades Hipotalámicas/diagnóstico , Enfermedades Hipotalámicas/diagnóstico por imagen , Preescolar , Convulsiones/etiología , Convulsiones/fisiopatología , Convulsiones/cirugía , Convulsiones/diagnóstico por imagen , Corteza Cerebral/diagnóstico por imagen , Corteza Cerebral/fisiopatología , Corteza Cerebral/patología , Corteza Cerebral/cirugía , Electroencefalografía , Terapia por LáserAsunto(s)
Astrocitoma , Angiografía con Fluoresceína , Hamartoma , Papiledema , Esclerosis Tuberosa , Humanos , Esclerosis Tuberosa/complicaciones , Esclerosis Tuberosa/diagnóstico , Papiledema/diagnóstico , Papiledema/etiología , Hamartoma/diagnóstico , Hamartoma/complicaciones , Astrocitoma/complicaciones , Astrocitoma/diagnóstico , Enfermedades de la Retina/diagnóstico , Enfermedades de la Retina/etiología , Fondo de Ojo , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/diagnóstico , Astrocitos/patología , Femenino , Masculino , Imagen por Resonancia MagnéticaRESUMEN
BACKGROUND: Inflammatory rhabdomyoblastic tumors are relatively recently recognized soft tissue tumors with a low malignant potential. Here, we present a case of concurrent inflammatory rhabdomyoblastic tumor (IRMT), adrenal pheochromocytoma, and pulmonary hamartoma in a patient with neurofibromatosis type 1 (NF1). To our knowledge, this is the first time that this constellation of tumors has been described in the literature. CASE PRESENTATION: A female patient in her late 20s with known NF1 was diagnosed with an inflammatory rhabdomyoblastic tumor, pheochromocytoma, and pulmonary hamartoma in a short succession. IRMT was found to harbor a near-haploid genome and displayed a typical immunohistochemical profile as well as a focal aberrant p53 expression pattern. CONCLUSIONS: This case report strengthens the theory that defects in the tumor suppressor NF1 play a central role in the pathogenesis of inflammatory rhabdomyoblastic tumors and that IRMT may be part of the spectrum of neurofibromatosis type 1 related tumors.
Asunto(s)
Neoplasias de las Glándulas Suprarrenales , Hamartoma , Neurofibromatosis 1 , Feocromocitoma , Humanos , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/diagnóstico , Neurofibromatosis 1/patología , Femenino , Hamartoma/patología , Hamartoma/diagnóstico , Feocromocitoma/patología , Feocromocitoma/complicaciones , Feocromocitoma/diagnóstico , Neoplasias de las Glándulas Suprarrenales/patología , Neoplasias de las Glándulas Suprarrenales/complicaciones , Neoplasias de las Glándulas Suprarrenales/diagnóstico , Adulto , Inmunohistoquímica , Enfermedades Pulmonares/patología , Enfermedades Pulmonares/diagnóstico , Neurofibromina 1/genética , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/genéticaRESUMEN
BACKGROUND: Pulmonary hamartomas are benign lung lesions. Histopathologically, pulmonary hamartoma is composed of varying amounts of mesenchymal elements, including chondroid tissue, mature adipose tissue, fibrous stroma, smooth muscle, and entrapped respiratory epithelium. Most pulmonary hamartoma cases are asymptomatic and found incidentally during imaging. They usually appear as well-circumscribed lesions with the largest dimension of less than 4 cm. Asymptomatic giant pulmonary hamartomas that more than 8 cm are rare. CASE PRESENTATION: In the current case report, a 12.0 × 9.5 × 7.5 cm lung mass was incidentally noticed in a 59-year-old female during a heart disease workup. Grossly, the lesion was lobulated with pearly white to tan-white solid cut surface and small cystic areas. Microscopically, representative tumor sections demonstrate a chondromyxoid appearance with relatively hypocellular stroma and entrapped respiratory epithelium at the periphery. No significant atypia is noted. No mitosis is noted, and the proliferative index is very low (< 1%) per Ki-67 immunohistochemistry. Mature adipose tissue is easily identifiable in many areas. Histomorphology is consistent with pulmonary hamartoma. A sarcoma-targeted gene fusion panel was further applied to this case. Combined evaluation of microscopic examination and sarcoma-targeted gene fusion panel results excluded malignant sarcomatous transformation in this case. The mediastinal and hilar lymph nodes are histologically benign. After surgery, the patient had an uneventful postoperative period. CONCLUSIONS: Giant pulmonary hamartoma is rare; our case is an example of a huge hamartoma in an asymptomatic patient. The size of this tumor is concerning. Thus, careful and comprehensive examination of the lesion is required for the correct diagnosis and to rule out co-existent malignancy.
Asunto(s)
Hamartoma , Humanos , Hamartoma/patología , Hamartoma/cirugía , Hamartoma/diagnóstico , Femenino , Persona de Mediana Edad , Enfermedades Pulmonares/patología , Enfermedades Pulmonares/cirugía , Enfermedades Pulmonares/diagnóstico , Hallazgos Incidentales , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/cirugía , Neoplasias Pulmonares/diagnósticoRESUMEN
Achieving favorable seizure outcomes is challenging in patients with seizures resulting from hypothalamic hamartoma. Although minimally invasive and non-invasive surgical procedures are used to treat this population, these procedures have limitations. Therefore, we analyzed the outcomes of patients with hypothalamic hamartoma following direct resection. We included 159 patients with hypothalamic hamartoma who underwent direct resection using the transcallosal interforniceal approach between 2011 and 2018. The relationships between clinical parameters and seizure outcomes were analyzed. In total, 55.3% achieved gross total resection and 25.2% underwent near-total resection. Of all patients, 79.2% were overall seizure-free at one year, but this number dropped to 77.0% at more than five years. Moreover, 88.4% (129/146) reached gelastic seizure (GS)-free status at one year and this number increased to 89.0% (97/109) at more than five years. Seventy-one patients took antiseizure medication (ASM) long-term, 68 took it for one year, and 11 took it for one-half year. The duration of ASM consumption (p < 0.001) and extent of hypothalamic hamartoma resection (p = 0.016) were significant independent predictors of long-term overall seizure-free survival, while the duration of ASM consumption (p = 0.011) and extent of hypothalamic hamartoma resection (p = 0.026) were significant independent predictors of long-term GS-free survival. Most patients' behavior, school performance, and intelligence were not affected after surgery. Direct resection is effective and safe strategy for patients with hypothalamic hamartomas. Hypothalamic hamartomas should be removed as completely as possible, and patients should take ASM long-term following surgery to reach long-term overall seizure-free or GS-free status.
Asunto(s)
Hamartoma , Enfermedades Hipotalámicas , Convulsiones , Humanos , Hamartoma/cirugía , Hamartoma/complicaciones , Enfermedades Hipotalámicas/cirugía , Enfermedades Hipotalámicas/complicaciones , Femenino , Masculino , Convulsiones/cirugía , Niño , Preescolar , Resultado del Tratamiento , Adolescente , Lactante , Procedimientos Neuroquirúrgicos/métodos , Procedimientos Neuroquirúrgicos/efectos adversos , Estudios Retrospectivos , Adulto , Adulto Joven , Anticonvulsivantes/uso terapéuticoRESUMEN
OBJECTIVE: To investigate the Italian experience on the surgical and radiosurgical treatment of drug-resistant epilepsy due to hypothalamic hamartoma (HH) in the period 2011-2021 in six Italian epilepsy surgery centers, and to compare safety and efficacy profiles of the different techniques. METHODS: We collected pseudo-anonymized patient's data with at least 12 months of follow-up. Surgical outcome was defined according to Engel classification of seizure outcome. Univariate analysis was performed to assess the risk of post-operative seizures, categorized in dichotomous variable as favorable and unfavorable; explanatory variables were considered. Mann-Whitney or Chi-squared test were used to assess the presence of an association between variables (p < 0.05). RESULTS: Full presurgical and postoperative data about 42 patients from 6 epilepsy surgery centers were gathered. Engel class I was reached in the 65.8% and 66.6% of patients with gelastic and non-gelastic seizures, respectively. Other than daily non-gelastic seizures were associated with seizure freedom (p = 0.01), and the radiological type presented a trend toward significance (p = 0.12). SIGNIFICANCE: Endoscopic disconnection and laser interstitial thermal therapy are effective in the treatment of HH-related epilepsy, with a tolerable safety profile. Both gelastic and non-gelastic seizures can be treated, also in patients with a long history of seizures. PLAIN LANGUAGE SUMMARY: This study collected data about 42 patients with HH-related epilepsies. Endoscopic disconnection and laser therapy are both effective and safe in the treatment of hypothalamic hamartoma-related epilepsies.
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Hamartoma , Enfermedades Hipotalámicas , Radiocirugia , Humanos , Hamartoma/cirugía , Enfermedades Hipotalámicas/cirugía , Radiocirugia/métodos , Italia , Femenino , Masculino , Niño , Preescolar , Adolescente , Epilepsia Refractaria/cirugía , Resultado del Tratamiento , Adulto , Lactante , Adulto Joven , Estudios Retrospectivos , Procedimientos Neuroquirúrgicos/métodosRESUMEN
The post-surgical outcome for Hypothalamic Hamartoma (HH) related epilepsy in terms of seizure freedom (SF) has been extensively studied, while cognitive and psychiatric outcome has been less frequently reported and defined. This is a systematic review of English language papers, analyzing the post-surgical outcome in series of patients with HH-related epilepsy (≥5 patients, at least 6 months follow-up), published within January 2002-December 2022. SF was measured using Engel scale/equivalent scales. We looked at the outcome related to different surgical techniques, and HH types according to Delalande classification. We evaluated the neuropsychological and neuropsychiatric status after surgery, and the occurrence of post-surgical complications. Forty-six articles reporting 1318 patients were included, of which ten pediatric series. SF was reported in 686/1222 patients (56,1%). Delalande classification was reported in 663 patients from 24 studies, of which 70 were type I HH (10%), 320 were type II HH (48%), 189 were type III HH (29%) and 84 were type IV HH (13%). The outcome in term of SF was reported in 243 out of 663 patients. SF was reported in 12 of 24 type I HH (50%), 80 of 132 type II HH (60,6%), 32 of 59 type III HH (54,2%) and 12 of 28 type IV HH (42,9%). SF was reached in 129/262 (49,2%) after microsurgery, 102/199 (51,3%) after endoscopic surgery, 46/114 (40,6%) after gamma knife surgery, 245/353 (69,4%) after radiofrequency thermocoagulation, and 107/152 (70,4%) after MRI-guided laser interstitial thermal therapy. Hyperphagia/weight gain were the most reported surgical complications. Others were electrolyte alterations, diabetes insipidus, hypotiroidism, transient hyperthermia/poikilothermia. The highest percentage of memory deficits was reported after microsurgery, while hemiparesis and cranial nerves palsy were reported after microsurgery or endoscopic surgery. Thirty studies reported developmental delay/intellectual disability in 424/819 (51,7%) patients. 248/346 patients obtained a global improvement (72%), 70/346 were stable (20%), 28/346 got worse (8%). 22 studies reported psychiatric disorders in 257/465 patients (55,3%). 78/98 patients improved (80%), 13/98 remained stable (13%), 7/98 got worse (7%). Most of the patients had non-structured cognitive/psychiatric assessments. Based on the available data, the surgical management in patients with HH related epilepsy should be individualized, aiming to reach not only the best epilepsy result, but also the optimal cognitive and psychiatric outcome.
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Epilepsia , Hamartoma , Enfermedades Hipotalámicas , Humanos , Enfermedades Hipotalámicas/cirugía , Enfermedades Hipotalámicas/complicaciones , Hamartoma/cirugía , Hamartoma/complicaciones , Epilepsia/cirugía , Epilepsia/psicología , Resultado del Tratamiento , Procedimientos Neuroquirúrgicos/efectos adversos , Pruebas Neuropsicológicas , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/psicología , Trastornos Mentales/etiologíaRESUMEN
This case report describes a diagnosis of combined hamartoma of the retina and retinal pigment epithelium (RPE) with filamentous RPE hyperplasia in a female child with a history of amblyopia, myopia, and exotropia of the affected eye.
Asunto(s)
Hamartoma , Hiperplasia , Enfermedades de la Retina , Epitelio Pigmentado de la Retina , Tomografía de Coherencia Óptica , Humanos , Angiografía con Fluoresceína/métodos , Hamartoma/diagnóstico , Enfermedades de la Retina/diagnóstico , Epitelio Pigmentado de la Retina/patologíaRESUMEN
BACKGROUND: Clinical differentiation between pulmonary metastases and noncalcified pulmonary hamartomas (NCPH) often presents challenges, leading to potential misdiagnosis. However, the efficacy of a comprehensive model that integrates clinical features, radiomics, and deep learning (CRDL) for differential diagnosis of these two diseases remains uncertain. OBJECTIVE: This study evaluated the diagnostic efficacy of a CRDL model in differentiating pulmonary metastases from NCPH. METHODS: The authors retrospectively analyzed the clinical and imaging data of 256 patients from the First Medical Centre of the General Hospital of the People's Liberation Army (PLA) and 85 patients from Shanghai Changhai Hospital, who were pathologically confirmed pulmonary hamartomas or pulmonary metastases after thoracic surgery. Employing Python 3.7 software suites, the authors extracted radiomic features and deep learning (DL) attributes from patient datasets. The cohort was divided into training set, internal validation set, and external validation set. The diagnostic performance of the constructed models was evaluated using receiver operating characteristic (ROC) curve analysis to determine their effectiveness in differentiating between pulmonary metastases and NCPH. RESULTS: Clinical features such as white blood cell count (WBC), platelet count (PLT), history of cancer, carcinoembryonic antigen (CEA) level, tumor marker status, lesion margin characteristics (smooth or blurred), and maximum diameter were found to have diagnostic value in differentiating between the two diseases. In the domains of radiomics and DL. Of the 1130 radiomics features and 512 DL features, 24 and 7, respectively, were selected for model development. The area under the ROC curve (AUC) values for the four groups were 0.980, 0.979, 0.999, and 0.985 in the training set, 0.947, 0.816, 0.934, and 0.952 in the internal validation set, and 0.890, 0.904, 0.923, and 0.938 in the external validation set. This demonstrated that the CRDL model showed the greatest efficacy. CONCLUSIONS: The comprehensive model incorporating clinical features, radiomics, and DL shows promise for aiding in the differentiation between pulmonary metastases and hamartomas.
Asunto(s)
Aprendizaje Profundo , Hamartoma , Neoplasias Pulmonares , Tomografía Computarizada por Rayos X , Humanos , Estudios Retrospectivos , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/secundario , Masculino , Femenino , Persona de Mediana Edad , Diagnóstico Diferencial , Hamartoma/diagnóstico por imagen , Hamartoma/patología , Hamartoma/diagnóstico , Adulto , Enfermedades Pulmonares/diagnóstico por imagen , Enfermedades Pulmonares/patología , Enfermedades Pulmonares/diagnóstico , Anciano , Curva ROC , RadiómicaRESUMEN
BACKGROUND: Respiratory epithelial adenomatoid hamartoma (REAH) is a benign lesion commonly occurring in the nasal cavity and sinuses. It is often accompanied by nasal polyps (NP). While the histological features of these two conditions have been studied, there is limited knowledge about their differences in the underlying immunopathology. METHODS: Nasal tissue specimens were collected from 8 patients with concurrent REAH and NP and 10 controls. The expression levels of inflammatory cytokines, tight junctions (TJ), and epithelial-mesenchymal transition (EMT)-related factors in the tissues were analyzed. The mRNA expression of the aforementioned factors was measured using qRT-PCR, while the expression of TJ and EMT-related proteins was analyzed through Western blotting and immunohistochemistry. RESULTS: Compared to the control group, levels of inflammatory cytokines (IFN-α, IL-5, IL-17A, IL-31, IL-33, and TNF-α) and EMT-related factors (α-SMA, COL1A1, MMP9, TGF-ß1, and Vimentin) were significantly increased in both REAH and NP tissues. Conversely, E-Cadherin and TJ-related factors (Claudin-4 and Occludin) significantly decreased. When comparing REAH with NP, it was observed that the expression of IL-4, IL-5, and IL-33 was lower in REAH, while TNF-É; was higher. Regarding TJ-related factors, the expression of Occludin was lower in REAH. Furthermore, in terms of EMT-related factors, except for E-Cadherin, the expressions of É-SMA, COL1A1, CTGF, MMP9, TGF-ß11, and Vimentin were higher in REAH. CONCLUSION: REAH and NP exhibit different immunopathological mechanisms. NP demonstrates a more severe inflammatory response, whereas REAH is characterized by a more pronounced TJ and EMT breakdown than NP.
Asunto(s)
Transición Epitelial-Mesenquimal , Hamartoma , Pólipos Nasales , Humanos , Pólipos Nasales/patología , Pólipos Nasales/metabolismo , Pólipos Nasales/inmunología , Hamartoma/patología , Hamartoma/metabolismo , Hamartoma/genética , Masculino , Femenino , Persona de Mediana Edad , Adulto , Citocinas/metabolismo , Mucosa Respiratoria/patología , Mucosa Respiratoria/metabolismo , InmunohistoquímicaRESUMEN
BACKGROUND AND OBJECTIVES: Gelastic seizures due to hypothalamic hamartomas (HH) are challenging to treat, in part due to an incomplete understanding of seizure propagation pathways. Although magnetic resonance imaging-guided laser interstitial thermal therapy (MRgLITT) is a promising intervention to disconnect HH from ictal propagation networks, the optimal site of ablation to achieve seizure freedom is not known. In this study, we investigated intraoperative post-ablation changes in resting-state functional connectivity to identify large-scale networks associated with successful disconnection of HH. METHODS: Children who underwent MRgLITT for HH at two institutions were consecutively recruited and followed for a minimum of one year. Seizure freedom was defined as Engel score of 1A at the last available follow-up. Immediate pre- and post- ablation resting-state functional MRI scans were acquired while maintaining a constant depth of general anesthetic. Multivariable generalized linear models were used to identify intraoperative changes in large-scale connectivity associated with seizure outcomes. RESULTS: Twelve patients underwent MRgLITT for HH, five of whom were seizure-free at their last follow-up. Intraprocedural changes in thalamocortical circuitry involving the anterior cingulate cortex were associated with seizure-freedom. Children who were seizure-free demonstrated an increase and decrease in connectivity to the pregenual and dorsal anterior cingulate cortices, respectively. In addition, children who became seizure-free demonstrated increased thalamic connectivity to the periaqueductal gray immediately following MRgLITT. DISCUSSION: Successful disconnection of HH is associated with intraoperative, large-scale changes in thalamocortical connectivity. These changes provide novel insights into the large-scale basis of gelastic seizures and may represent intraoperative biomarkers of treatment success.
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Hamartoma , Enfermedades Hipotalámicas , Terapia por Láser , Imagen por Resonancia Magnética , Tálamo , Humanos , Hamartoma/cirugía , Hamartoma/fisiopatología , Hamartoma/diagnóstico por imagen , Hamartoma/complicaciones , Masculino , Femenino , Enfermedades Hipotalámicas/cirugía , Enfermedades Hipotalámicas/fisiopatología , Enfermedades Hipotalámicas/diagnóstico por imagen , Terapia por Láser/métodos , Niño , Preescolar , Imagen por Resonancia Magnética/métodos , Tálamo/diagnóstico por imagen , Tálamo/fisiopatología , Tálamo/cirugía , Lactante , Adolescente , Epilepsias Parciales/cirugía , Epilepsias Parciales/fisiopatología , Epilepsias Parciales/diagnóstico por imagen , Red Nerviosa/diagnóstico por imagen , Red Nerviosa/fisiopatología , Resultado del TratamientoRESUMEN
OBJECTIVE: Rarely do spinal hamartomas receive attention in the literature, and the majority of previous studies consist of case reports. The purpose of this report, then, is to provide a more accurate diagnosis and treatment of spinal hamartomas by presenting the clinical and surgical outcomes of 8 cases. METHODS: The researchers conducted a retrospective analysis of the data for 8 individuals with spinal hamartomas. The 8 patients had undergone both preoperative and postoperative magnetic resonance imaging (MRI) and went through surgery. Radiologic and pathologic criteria were applied to diagnose the spinal hamartomas. The Modified McCormick classification system was used to evaluate neurologic function in these patients. RESULTS: Among the 8 patients, 6 were male and 2 were female, with an average age of 37.4 years. The typical duration of symptoms was 14.5 months. During surgery, all lesions were well-defined and located in the bone marrow. Gross total resection (GTR) was achieved in 6 cases, and the anatomical plane was clearly delineated, and subtotal resection (STR) was achieved in 2 cases. None of the patients took postoperative radiotherapy. 14.5 months was the average follow-up period during this time, and MRI did not observe the recurrence or regeneration of residual tumors. The McCormick grade was improved in 7 patients and remained stable in 1 patient. CONCLUSIONS: Spinal hamartomas are benign, but they are clinically progressive lesions. Pathology is the basis of accurate diagnosis, and complete preoperative evaluation is crucial for providing suitable treatment and prognosis.
Asunto(s)
Hamartoma , Imagen por Resonancia Magnética , Humanos , Femenino , Hamartoma/cirugía , Hamartoma/diagnóstico por imagen , Masculino , Adulto , Persona de Mediana Edad , Resultado del Tratamiento , Estudios Retrospectivos , Adulto Joven , Procedimientos Neuroquirúrgicos/métodos , AdolescenteRESUMEN
ABSTRACT: Rhabdomyomatous mesenchymal hamartoma (RMH) typically presents as a congenital midline head and neck cutaneous polyp in infants. Perianal and mucocutaneous lesions have been reported, and recently, acquired adult-onset variants have been proposed. This makes the true prevalence, etiopathogenesis, and clinicopathologic distribution and classification of RMHs in children compared with those in adults uncertain. We performed a retrospective review to highlight the salient histopathologic, histochemical, and immunohistochemical features in RMHs and to emphasize their specific clinicopathologic criteria to avoid diagnostic pitfalls. We found 4 (0.3%) infants [2 female infants and 2 male infants, average age: 4 months] with mental, nasal, lingual, and perianal midline RMHs (average size: 1.0 cm) of 1303 patients with cutaneous polypoid lesions. Three were isolated, and 1 was associated with Goldenhar syndrome. The cutaneous polyps demonstrated intermixed skeletal muscle, adipose, and fibrocollagenous core stroma that extended into the dermis and around the dermal appendages. The lingual lesion demonstrated skeletal muscle and fibrocollagenous stroma with prominent nerve bundles and little adipose tissue. All showed interstitial loose mesenchyme. Masson trichome demarcated the triphasic stromal components. Alcian blue demonstrated the loose myxoid mesenchyme. Elastic van Gieson did not show elastic fibers. Desmin demonstrated the skeletal muscle bundles, S100 highlighted the adipose tissue lobules and the nerve bundles, and CD34 displayed the mesenchymal stroma. Ki67 showed a low proliferation index in the loose mesenchyme. Smooth muscle actin did not reveal smooth muscle bundles, but with CD31, they highlighted the thick blood vessels. CD117 revealed prominent mast cells. From our retrospective review series, 4 cases that originally diagnosed as RMHs were excluded. Likewise, we found some examples of the reported cases in the English literature that might have been mistaken for RMHs. This is because they did not fulfill the diagnostic clinicopathologic criteria. RMH constitutes a rare entity with specific clinicopathologic features. Most lesions are isolated. Some are associated with congenital anomalies and syndromes. Strict clinicopathologic diagnostic criteria should be applied to avoid mislabeling look-alike lesions for RMHs.